Accelerating Research to Cure Pyruvate Dehydrogenase Complex Deficiency

“No cure” is not an answer.

Our mission is simple: to find a cure for PDCD. 1 in 40,000 children is born with PDCD; genetic medicine, combined with standards of care, small molecule therapy, and early diagnosis, will give them a fighting chance1. Our work will help advance research for AAV9 genetic medicine, which is currently the best hope for PDCD and other neurodegenerative diseases.

Hope for PDCD Foundation acknowledges and thanks the Elizabeth Watt PDCD Research Fund. We would not be where we are today without them. To our knowledge, the Watt Fund was the first patient advocacy group solely dedicated to PDCD in the US. Their dedication and efforts over the last decade laid the groundwork for the foundation of PDCD research and they continue to fund novel treatments for PDCD.

What is Pyruvate Dehydrogenase Complex Deficiency?

Pyruvate Dehydrogenase Complex Deficiency is the second most common genetically-resolved mitochondrial disorder in the NAMDC (North American Mitochondrial Disease Consortium) Registry2. PDCD is a disease of carbohydrate metabolism and the disorder can cause a dangerous buildup of lactic acid in the organs. The ketogenic diet (KD) is the main therapy for primary-specific PDCD1. The KD may not be effective or useful or may be even harmful for secondary conditions or more primary generalized deficiency. PDCD typically attacks the brain first, followed by the muscular system. Children with PDCD are perfectly made and they deserve the best quality of life and life expectancy possible.

FAQs

Changing the narrative for our rare disease kids.

There are 15 million children in the US battling 1000’s of rare diseases3. Because their individual diseases are not profitable to cure, many will pass away before a cure will ever be found. Our community of parents, grandparents, caretakers, aunts, uncles, family and friends of PDCD are working together to push science to move faster for our children.

PDCD at a Glance

Most children diagnosed with PDCD pass away within

4 years 4*

According to the newborn screen in Ohio, the incidence rate of PDCD is

1 in ~40,000 1

The average diagnostic journey for a PDCD family is

31 months 4

PDCD has been overlooked by the medical field. That changes with us.

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References

  1. Bedoyan et al. 2022, NBS Research Summit. Pyruvate Dehydrogenase Complex Deficiency: Pilot Newborn Screening and Prospects of Novel Target-based Small Molecule Therapeutics

  2. Barca et al. (2020) Neurol Genet 6:402

  3. Huron, Jennifer. “More than 15 Million Sick Children Need Congress to Act before Sept. 30: Rare Disease Pediatric Review Voucher Program.” NORD (National Organization for Rare Disorders), 15 Sept. 2016

  4. Shin et al. (2017) Mol Genet Metab, 122:61-66
* It should be noted that the clinical presentation of PDC deficiency is variable and ranges from fatal congenital lactic acidosis and congenital brain abnormalities to relatively mild ataxia or neuropathy with normal cognitive function and long survival